| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Amyloidosis |
Conflicting classifications of pathogenicity |
rs141443652 |
RCV000852682 |
| Arrhythmogenic right ventricular cardiomyopathy |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs141443652, rs202035749 |
RCV000852682 RCV000852685 |
| Arthrogryposis multiplex congenita |
Uncertain significance |
rs770195100 |
RCV000855511 |
| Cardiomyopathy |
Benign |
rs35761089, rs35998138, rs35645287, rs35969221 |
RCV000030556 RCV000030557 RCV000030558 RCV000030559 |
| Cardiovascular phenotype |
Likely benign; Uncertain significance |
rs886038776, rs886038774, rs886038806 |
RCV000254276 RCV000251984 RCV000252187 |
| Cervical cancer |
Benign |
rs12311323 |
RCV005918877 |
| Dilated cardiomyopathy 1T |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
rs141443652, rs1085307099, rs17028450, rs1060499573, rs943754313, rs11838270 |
RCV000625188 RCV000490513 RCV000013544 RCV000477844 RCV000625186 RCV000625187 |
| Dilated Cardiomyopathy, Dominant |
Uncertain significance |
rs886049908 |
RCV000329430 |
| Fetal akinesia deformation sequence 1 |
Uncertain significance |
rs770195100 |
RCV000855511 |
| Hepatocellular carcinoma |
Benign |
rs3213901 |
RCV005902348 |
| High myopia |
Conflicting classifications of pathogenicity |
rs146364154 |
RCV005863030 |
| Hypertrophic cardiomyopathy |
Conflicting classifications of pathogenicity |
rs143232629, rs1051007448 |
RCV000852681 RCV000852684 |
| Hypertrophic cardiomyopathy 25 |
Conflicting classifications of pathogenicity |
rs17028450 |
RCV001258228 |
| Loeys-Dietz syndrome 2 |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign |
rs1430201856, rs1235766643, rs766401550, rs1381728541, rs200124801, rs147002330, rs1227785613, rs879040481, rs1877364478, rs1319585944, rs1259294108, rs1359210478, rs1877361719, rs144269053, rs774064196, rs763238672, rs1001615865, rs1877210566, rs1447801243, rs2121207714, rs1268085556, rs777779709, rs1877328100, rs1877426910, rs2121203040, rs1336852045, rs1464689689, rs188308994, rs371441559, rs577869374, rs2121211142, rs780119963, rs2121195654, rs545742855, rs774747367, rs202106275, rs375628010, rs1351997207, rs749772850, rs756782828, rs764177808, rs1442448525, rs747232440, rs200856956, rs369379490, rs370585407, rs772424658, rs1877291034, rs1238424266, rs571417296, rs770948908, rs2121208214, rs2121093002, rs766232053, rs529351559, rs753917997, rs746863579, rs1877431244, rs2121195897, rs2121208283, rs1450805694, rs2121195483, rs144465114, rs1875782829, rs2121202826, rs767247716, rs779219922, rs201838047, rs185083543, rs755623404, rs1877366767, rs1877327751, rs146158243, rs745484180, rs747695132, rs1435432542, rs183244086, rs2121211551, rs904567500, rs772520813, rs557983360, rs202166461, rs1877399544, rs776416936, rs745442874, rs987636941, rs1877412433, rs750502531, rs2121092959, rs374855899, rs538702194, rs760459470, rs1055056946, rs749108666, rs2121204053, rs757659026, rs1299226116, rs766680931, rs1010758415, rs1875748424, rs373227285, rs780889526, rs977042843, rs145677259, rs2121195450, rs1174108011, rs727505279, rs727504659, rs375903462, rs145703021, rs727505217, rs727503491, rs59027673, rs138790561, rs369208265, rs143232629, rs34301677, rs34983516, rs1877418406, rs2548501767, rs758798967, rs730880228, rs730880229, rs533418524, rs370093524, rs1733972268, rs758500418, rs149120802, rs774531403, rs1336665930, rs891817432, rs889989804, rs371731646, rs777048063, rs748037231, rs1254912268, rs752783130, rs377465206, rs573799737, rs181830203, rs751968708, rs758463592, rs143845319, rs200717863, rs1592946403, rs2548504799, rs1877409856, rs532884813, rs780907463, rs757406049, rs1201669937, rs1158896182, rs1278196276, rs748689543, rs777297343, rs1877200530, rs2548504905, rs745639054, rs1198782983, rs1875745280, rs868100288, rs750999829, rs200420073, rs200943582, rs200923649, rs201730568, rs199943517, rs370366685, rs141443652, rs142981381, rs373861992, rs754290044, rs1439982638, rs1363248068, rs746022820, rs763852580, rs1875752554, rs2548503645, rs200619128, rs1167162706, rs946275644, rs141387097, rs147012167, rs146364154, rs771185259, rs759832690, rs2548488713, rs750410131, rs2548505029, rs2548504553, rs1877293542, rs569630929, rs774334407, rs1241598109, rs1877360788, rs2548498763, rs2548501708, rs1877364689, rs2548505338, rs2548498858, rs2548502894, rs2548501823, rs2548501750, rs768195224, rs1876900973, rs1375655151, rs1877363063, rs2548499011, rs769043908, rs2548505168, rs1875768808, rs1438230077, rs1592946627, rs2548489174, rs2548503724, rs2548503632, rs755557300, rs34150443, rs369897433, rs767216575, rs141347778, rs760897364, rs1480715662, rs1285853015, rs17028450, rs774919594, rs1014307018, rs2548503953, rs1056300777, rs1355976101, rs1244496132, rs1319309709, rs758666714, rs1482407845, rs751811256, rs139576816, rs1043570394, rs2548503240, rs2548504903, rs2548504418, rs1565808154, rs753557227, rs530601901, rs761604324, rs2548503110, rs2548501783, rs778992198, rs1405113817, rs2548504369, rs769379071, rs2548502852, rs1191424030, rs770791830, rs781091247, rs1402477287, rs2548502784, rs1361401032, rs2548505246, rs1220040656, rs966227304, rs1877341732, rs1244858960, rs761081417, rs759899689, rs927921003, rs2548501793, rs1565812077, rs1442003754, rs147803339, rs753196252, rs2548505268, rs1877414127, rs749586558, rs1459534403, rs143185150, rs549257131, rs753527126, rs760171602, rs886049911, rs766567371, rs886049913, rs886049910, rs368211058, rs780719278, rs886049912, rs534940271, rs147812883, rs747943302, rs774853700, rs1057524856, rs765524061, rs746160070, rs756784841, rs766190912, rs1060502979, rs138259721, rs150445385, rs766680788, rs1060502980, rs138388686, rs375619307, rs762263378, rs1555203864, rs765922156, rs1261891552, rs765153747, rs35761089, rs35998138, rs35645287, rs35969221, rs760685984, rs762576951, rs201034441, rs910746839, rs376074187, rs767209319, rs142500409, rs576517565, rs191275106, rs1555203926, rs776054749, rs57670957, rs375056835, rs760772599, rs370939324, rs776923796, rs755323971, rs1284474609, rs1555201569, rs767796798, rs778356103, rs1302280025, rs943754313, rs1555201635, rs563175204, rs774074641, rs746645331, rs201929673, rs1450811229, rs11838270, rs80325832, rs372248802, rs12316677, rs17459334, rs138295270, rs202035749, rs397516844, rs200016687, rs139700737, rs375249647, rs114939776, rs754951098, rs754188509, rs759247844, rs750751621, rs369840957, rs755715445, rs1565812072, rs1565812255, rs371427406, rs769778970, rs754944353, rs779961791, rs747613142, rs1335078305, rs777452560, rs1051007448, rs149067616, rs772426890, rs147635314, rs1592947011, rs780142223, rs1490105931, rs756232510, rs1325674217, rs779869644, rs763320036, rs560525921, rs779303657, rs1877372287, rs764610443, rs367769644, rs201960762, rs1479099731, rs1343917914, rs1325196944, rs199549942, rs772509210, rs1877309895, rs1877412049, rs764732034, rs754640974, rs902009254, rs200367787, rs1877422962, rs779658294, rs763388598, rs1875778307, rs759987514, rs747066370, rs767027388, rs1877401842 View all (387 more) |
RCV001318742 RCV001320227 RCV001312300 RCV001317603 RCV001313279 RCV001319827 RCV001322672 RCV001319055 RCV001321389 RCV001327486 RCV001337978 RCV001337351 RCV001340279 RCV001340824 RCV001346441 RCV001345384 RCV001373916 RCV001371835 RCV001370588 RCV001368134 RCV001367821 RCV001395885 RCV001411203 RCV001393501 RCV001448387 RCV001442189 RCV001471334 RCV001477673 RCV001474105 RCV001467603 RCV001460594 RCV001502395 RCV001484549 RCV001480855 RCV001504093 RCV001496123 RCV001492212 RCV001495260 RCV001479839 RCV001518704 RCV001866108 RCV001866133 RCV002579449 RCV003514516 RCV002032767 RCV003514518 RCV003626682 RCV005094957 RCV002544063 RCV001868504 RCV002024172 RCV001877130 RCV002049716 RCV002017848 RCV001953090 RCV001960339 RCV001889257 RCV002014386 RCV001896887 RCV002018283 RCV001921186 RCV001966926 RCV002008560 RCV001995276 RCV001930838 RCV001969314 RCV001882322 RCV001972162 RCV001927268 RCV001887188 RCV001926430 RCV001928703 RCV002006963 RCV001985907 RCV001896607 RCV001949864 RCV001920720 RCV001936490 RCV002044213 RCV001970465 RCV001889996 RCV001973087 RCV001966697 RCV002003992 RCV001889685 RCV001974648 RCV001974691 RCV001987230 RCV002023810 RCV001937866 RCV002094148 RCV002083967 RCV002182985 RCV002178419 RCV002111726 RCV002146803 RCV002172575 RCV002207843 RCV002197917 RCV002112964 RCV002115546 RCV002077908 RCV002113270 RCV002118998 RCV002120603 RCV002204885 RCV002129049 RCV002169657 RCV003514547 RCV001063629 RCV000864212 RCV001313511 RCV000228189 RCV002515033 RCV003626607 RCV000470699 RCV001080218 RCV000815161 RCV001047321 RCV000529930 RCV000865214 RCV002302129 RCV002295987 RCV003626713 RCV000645708 RCV000687239 RCV003775755 RCV005096404 RCV003775786 RCV003626718 RCV003775826 RCV003626739 RCV003626740 RCV003096468 RCV003626738 RCV003626728 RCV003100110 RCV003095033 RCV003108087 RCV003514573 RCV003097139 RCV003100844 RCV003626776 RCV003097324 RCV003514572 RCV003626761 RCV003514574 RCV003095304 RCV003097000 RCV003626766 RCV003100818 RCV003097285 RCV003626788 RCV005097822 RCV003101764 RCV003102175 RCV003103032 RCV003626804 RCV003052952 RCV003058745 RCV003075704 RCV003083598 RCV003072059 RCV003061658 RCV003091590 RCV003093264 RCV003088238 RCV002515261 RCV002516568 RCV001088983 RCV003626608 RCV001307581 RCV001318983 RCV001081032 RCV001078669 RCV000803995 RCV003084955 RCV002636643 RCV002616410 RCV002595367 RCV002599049 RCV002629417 RCV003111896 RCV002591154 RCV002605566 RCV002609967 RCV000226396 RCV000824153 RCV001049700 RCV000468616 RCV001202094 RCV002639020 RCV002680973 RCV002646680 RCV002716906 RCV002731526 RCV002721460 RCV002785727 RCV002800592 RCV002800048 RCV002795445 RCV002823689 RCV002806492 RCV002833999 RCV002842579 RCV002861517 RCV002843907 RCV002871994 RCV002867513 RCV002895768 RCV002912937 RCV002926579 RCV002886399 RCV002913264 RCV002932779 RCV002975253 RCV002923464 RCV002929001 RCV002999527 RCV003013866 RCV003014573 RCV003009923 RCV003033246 RCV003051739 RCV003054422 RCV000645717 RCV000229673 RCV000229833 RCV002059044 RCV003514624 RCV003514626 RCV005102711 RCV000231421 RCV005104173 RCV005104226 RCV003515276 RCV003515497 RCV003515615 RCV003515626 RCV003514132 RCV003514133 RCV003514058 RCV003514263 RCV003516203 RCV003516185 RCV003516341 RCV003514776 RCV003516385 RCV003516496 RCV003514919 RCV003515950 RCV003515829 RCV003627042 RCV003627664 RCV003627600 RCV003628030 RCV003628072 RCV003627967 RCV003627978 RCV003628351 RCV003628222 RCV003628313 RCV003628476 RCV003628570 RCV003626128 RCV003626342 RCV003626343 RCV003626282 RCV003626325 RCV003626390 RCV003627250 RCV003627342 RCV003627345 RCV003627351 RCV003627370 RCV003627374 RCV003627483 RCV003628099 RCV003627432 RCV003814512 RCV003811942 RCV003821276 RCV003835991 RCV003858143 RCV003850750 RCV003865750 RCV003854818 RCV003876097 RCV003875341 RCV003870291 RCV000953852 RCV000688687 RCV002197280 RCV005078214 RCV003626532 RCV001960203 RCV003626987 RCV000461720 RCV001850639 RCV000550918 RCV001396124 RCV000645716 RCV001443585 RCV001350147 RCV002522726 RCV001477218 RCV001865331 RCV000808076 RCV002522597 RCV000463407 RCV001447383 RCV000470219 RCV000475759 RCV001446947 RCV000475688 RCV000468859 RCV000795758 RCV002524046 RCV002524101 RCV000792924 RCV005091227 RCV000810881 RCV000458709 RCV000467116 RCV000463882 RCV000456911 RCV000549718 RCV000560544 RCV000538101 RCV000558399 RCV000539377 RCV000544549 RCV000559367 RCV000524814 RCV000548419 RCV001308233 RCV002530929 RCV001433533 RCV000864090 RCV002066840 RCV001499646 RCV000865564 RCV003767763 RCV001518151 RCV001426428 RCV001209623 RCV005091768 RCV000819571 RCV001868098 RCV002528816 RCV001453302 RCV000645710 RCV000645707 RCV000645709 RCV000645712 RCV000645713 RCV000645715 RCV000645714 RCV003514399 RCV001082038 RCV000232151 RCV002513484 RCV000225854 RCV001509969 RCV001852787 RCV001087301 RCV000475290 RCV000867585 RCV001081889 RCV000645711 RCV000227357 RCV000696856 RCV000695906 RCV000687977 RCV000689296 RCV000698601 RCV000692559 RCV000701485 RCV000703152 RCV000698079 RCV000815967 RCV000813274 RCV000807713 RCV000815281 RCV000804962 RCV000814935 RCV001410391 RCV002538868 RCV000861422 RCV001515534 RCV001397893 RCV001496311 RCV000934886 RCV000983867 RCV001066134 RCV001044444 RCV001053280 RCV001071009 RCV001065544 RCV001051308 RCV001037550 RCV001066943 RCV001045543 RCV001066525 RCV001056508 RCV002069235 RCV005057074 RCV005094033 RCV001224453 RCV001223153 RCV001203525 RCV001208499 RCV001210437 RCV001211910 RCV001225675 RCV001232526 RCV001246367 RCV001243793 RCV001239717 RCV002537905 RCV002538425 RCV001309287 RCV001300405 RCV001305489 RCV001295864 RCV001295691 RCV001304718 |
| Long QT syndrome |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs990534778, rs202035749, rs200367787 |
RCV003318441 RCV003318343 RCV003318398 |
| Primary dilated cardiomyopathy |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs145703021, rs141443652, rs146364154, rs17028450, rs375619307, rs191275106 |
RCV000852683 RCV000578085 RCV005863030 RCV000172599 RCV000498737 RCV000577972 |
| Primary familial hypertrophic cardiomyopathy |
Uncertain significance; Conflicting classifications of pathogenicity |
rs730880228, rs730880229, rs115843977 |
RCV000157526 RCV000157528 RCV000157527 |
| TMPO-related disorder |
Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance |
rs61744201, rs138298699, rs147002330, rs145703021, rs34983516, rs144913822, rs1058300, rs141443652, rs141387097, rs34150443, rs369897433, rs141347778, rs17028450, rs573799737, rs368843309, rs756784841, rs7133258, rs139700737 View all (3 more) |
RCV003931187 RCV004756272 RCV003408082 RCV003907464 RCV003917517 RCV003927469 RCV003935277 RCV003937542 RCV003977488 RCV003929910 RCV003907869 RCV003909890 RCV003904834 RCV003393054 RCV003921527 RCV004755914 RCV003914929 RCV003924920 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs61744201 |
RCV005916425 |
|